NM_002354.3:c.556-14A>G - CAGS

NM_002354.3:c.556-14A>G

HGVS Expressions

NG_012352.2:g.38777A>G
NM_002354.3:c.556-14A>G
NC_000002.12:g.47378939A>G

Associated Genes

Epithelial Cellular Adhesion Molecule

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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

Subject ID	Country of Origin	Allele Count	Allele Frequency	CTGA Clinical Significance	Condition(s)	Reference	Remarks
613217.19	Morocco	2		Likely Pathogenic	Diarrhea 5, with Tufting Enteropathy, Congenital	Pathak et al. 2019; Salomon et al. 2014
613217.20	Morocco	2		Likely Pathogenic	Diarrhea 5, with Tufting Enteropathy, Congenital	Pathak et al. 2019; Salomon et al. 2014
613217.21	Morocco	1		Likely Pathogenic	Diarrhea 5, with Tufting Enteropathy, Congenital	Pathak et al. 2019; Salomon et al. 2014
613217.G.3	Algeria	2		Likely Pathogenic	Diarrhea 5, with Tufting Enteropathy, Congenital	Salomon et al. 2014	Group of two unrelated patients

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Contributors

Pratibha Nair: 16.10.2023

Edit History

Pratibha Nair: 16.10.2023

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© CAGS 2024. All rights reserved.